Prurigo pigmentosa: not an uncommon disease in the Turkish population

A steroid 21-hydroxylase allele concomit

A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish population

✍ Anna Wedell; Xu Chun; Holger Luthman 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 382 KB

We describe a steroid 21-hydroxylase allele carrying four disease-causing mutations, viz. I173N, V282L, I237N + V238E + M240K, and the insertion of T at 308 L. The first two are established causes of partial enzyme deficiency, whereas the last two are known to result in the most severe, salt-wasting